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ASB10

Synonyms
GLC1F
External resources
Summary
The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. The SOCS box serves to couple suppressor of cytokine signaling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
9
Likely pathogenic
4,224
VUS
5,218
Likely benign
4,616
Benign
0

Patient phenotypes

Proportions of phenotypes among 4229 patients carring pathogenic or likely pathogenic variants on ASB10 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.4%
Abnormality of the musculoskeletal system
26.7%
Abnormality of the eye
21.4%
Abnormality of head or neck
21.3%
Abnormality of the cardiovascular system
17.2%
Abnormality of the ear
15.4%
Growth abnormality
13.3%
Abnormality of the genitourinary system
8.9%
Abnormality of the integument
8.6%
Abnormality of limbs
8.3%
Abnormality of the digestive system
6.3%
Abnormality of the immune system
5.9%
Abnormality of blood and blood-forming tissues
5.5%
Abnormality of the endocrine system
3.1%
Abnormality of the respiratory system
3%
Abnormality of prenatal development or birth
2.8%
Neoplasm
2%
Constitutional symptom
1.1%
Abnormal cellular phenotype
0.7%
Abnormality of the breast
0.6%
Abnormality of the voice
0.3%
Abnormality of the thoracic cavity
0%
Abnormality of metabolism homeostasis
0%

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